Variant report

Variant	rs4853694
Chromosome Location	chr2:191219273-191219274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:191218974-191219452	K562	blood:	n/a	n/a
2	TBL1XR1	chr2:191218987-191219476	K562	blood:	n/a	n/a
3	MAX	chr2:191219051-191219448	K562	blood:	n/a	n/a
4	BHLHE40	chr2:191218995-191219349	K562	blood:	n/a	n/a
5	RCOR1	chr2:191218992-191219479	K562	blood:	n/a	n/a
6	RCOR1	chr2:191219194-191219494	K562	blood:	n/a	n/a
7	TEAD4	chr2:191218990-191219404	K562	blood:	n/a	n/a
8	MAZ	chr2:191218984-191219474	K562	blood:	n/a	n/a
9	TEAD4	chr2:191218957-191219498	K562	blood:	n/a	n/a
10	ATF1	chr2:191218975-191219532	K562	blood:	n/a	n/a
11	POLR2A	chr2:191219054-191219336	K562	blood:	n/a	n/a
12	EGR1	chr2:191219117-191219437	K562	blood:	n/a	n/a
13	TAL1	chr2:191219012-191219394	K562	blood:	n/a	n/a
14	JUND	chr2:191219002-191219462	K562	blood:	n/a	n/a
15	EGR1	chr2:191219094-191219408	K562	blood:	n/a	n/a
16	MYC	chr2:191219016-191219430	K562	blood:	n/a	n/a
17	IRF1	chr2:191218749-191219323	K562	blood:	n/a	chr2:191218985-191218999 chr2:191218986-191218998 chr2:191218986-191218997 chr2:191218986-191218998 chr2:191218795-191218802 chr2:191218983-191218997 chr2:191218986-191218999 chr2:191218987-191218997
18	CUX1	chr2:191218929-191219631	K562	blood:	n/a	n/a
19	ATF3	chr2:191218976-191219371	K562	blood:	n/a	n/a
20	MYC	chr2:191218993-191219616	K562	blood:	n/a	n/a
21	TBP	chr2:191219109-191219346	K562	blood:	n/a	n/a
22	ZMIZ1	chr2:191218992-191219410	K562	blood:	n/a	n/a
23	CCNT2	chr2:191219144-191219392	K562	blood:	n/a	n/a
24	GATA2	chr2:191218953-191219371	K562	blood:	n/a	n/a
25	NR2F2	chr2:191219015-191219365	K562	blood:	n/a	n/a
26	JUN	chr2:191219024-191219352	K562	blood:	n/a	n/a
27	IRF1	chr2:191218828-191219366	K562	blood:	n/a	chr2:191218985-191218999 chr2:191218986-191218998 chr2:191218986-191218997 chr2:191218986-191218998 chr2:191218983-191218997 chr2:191218986-191218999 chr2:191218987-191218997

No.	Distal block	Cell Line	Cell type
1	chr2:191218042..191219549-chr2:191271331..191272978,2	K562	blood:
2	chr2:191217832..191219437-chr2:191221775..191223473,2	MCF-7	breast:
3	chr2:191212374..191214563-chr2:191217575..191219324,2	K562	blood:
4	chr2:191217424..191219549-chr2:191271045..191272978,3	K562	blood:

Variant related genes	Relation type
INPP1	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10183133	0.87[JPT][hapmap]
rs10188044	0.86[JPT][hapmap]
rs10209984	0.87[JPT][hapmap]
rs1058180	0.87[JPT][hapmap]
rs10931450	0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs11683763	0.87[JPT][hapmap]
rs11695166	0.86[JPT][hapmap]
rs11888626	0.87[JPT][hapmap]
rs1366672	0.87[JPT][hapmap]
rs1372054	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16832456	0.87[JPT][hapmap]
rs176712	0.87[JPT][hapmap]
rs1866849	0.87[JPT][hapmap]
rs1882892	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs188339	0.87[JPT][hapmap]
rs1984626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015744	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2016037	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067391	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067393	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067394	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067395	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067397	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067402	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2067405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067406	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067408	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067411	0.91[JPT][hapmap]
rs2067412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067415	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067416	0.94[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.82[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067417	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067418	0.91[JPT][hapmap]
rs2067419	0.91[JPT][hapmap]
rs2067420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067421	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067423	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067424	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2067425	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136567	0.87[JPT][hapmap]
rs2136568	0.86[JPT][hapmap]
rs2136571	0.86[JPT][hapmap]
rs2244076	0.86[JPT][hapmap]
rs2256301	0.87[JPT][hapmap]
rs2303827	0.87[JPT][hapmap]
rs2353890	0.87[JPT][hapmap]
rs2562796	0.87[JPT][hapmap]
rs2582742	0.87[JPT][hapmap]
rs2582743	0.95[JPT][hapmap]
rs2582744	0.87[JPT][hapmap]
rs2582753	1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs2582762	0.87[JPT][hapmap]
rs2664241	0.87[JPT][hapmap]
rs2664256	0.85[JPT][hapmap]
rs2664274	0.87[JPT][hapmap]
rs2664275	0.89[JPT][hapmap]
rs2736621	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2736622	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291402	0.87[JPT][hapmap]
rs291407	0.87[JPT][hapmap]
rs291413	0.87[JPT][hapmap]
rs291418	0.87[JPT][hapmap]
rs291419	0.87[JPT][hapmap]
rs291423	0.87[JPT][hapmap]
rs291424	0.87[JPT][hapmap]
rs291434	0.90[JPT][hapmap]
rs291435	0.87[JPT][hapmap]
rs291436	0.86[JPT][hapmap]
rs291441	0.86[JPT][hapmap]
rs291442	0.87[JPT][hapmap]
rs291451	0.87[JPT][hapmap]
rs3791788	0.87[JPT][hapmap]
rs3791791	0.86[JPT][hapmap]
rs3791815	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3791816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707602	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707681	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720060	0.87[JPT][hapmap]
rs6721431	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs713425	0.87[JPT][hapmap]
rs72627906	0.99[ASN][1000 genomes]
rs7562807	0.87[JPT][hapmap]
rs7565423	0.87[JPT][hapmap]
rs7573689	0.86[JPT][hapmap]
rs7574028	0.87[JPT][hapmap]
rs972689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs972690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs979329	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs4853694	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs4853694	INPP1	cis	cerebellum	SCAN
rs4853694	WDR75	cis	lymphoblastoid	seeQTL
rs4853694	HIBCH	cis	multi-tissue	Pritchard
rs4853694	HIBCH	cis	Thyroid	GTEx
rs4853694	HIBCH	cis	cerebellum	SCAN
rs4853694	INPP1	cis	parietal	SCAN
rs4853694	HIBCH	cis	parietal	SCAN
rs4853694	MFSD6	cis	cerebellum	SCAN
rs4853694	INPP1	cis	lymphoblastoid	seeQTL
rs4853694	INPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191209400-191221000	Weak transcription	Placenta	Placenta
2	chr2:191209400-191222800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:191209400-191224600	Weak transcription	Colonic Mucosa	Colon
4	chr2:191209800-191223200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:191209800-191223400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:191209800-191224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:191209800-191224600	Weak transcription	NH-A	brain
8	chr2:191210000-191220800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:191210000-191221000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:191210000-191223600	Weak transcription	Osteobl	bone
11	chr2:191210000-191224400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:191210400-191223400	Weak transcription	NHLF	lung
13	chr2:191210400-191224200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:191211000-191224200	Weak transcription	HUVEC	blood vessel
15	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
16	chr2:191212200-191224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:191214000-191230400	Weak transcription	Aorta	Aorta
18	chr2:191214800-191219600	Enhancers	Brain Substantia Nigra	brain
19	chr2:191215400-191220800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:191216200-191219600	Enhancers	Duodenum Mucosa	Duodenum
21	chr2:191216400-191219800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr2:191216600-191220200	Enhancers	Liver	Liver
23	chr2:191216600-191221600	Enhancers	Stomach Mucosa	stomach
24	chr2:191216800-191219600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:191216800-191219600	Enhancers	NHEK	skin
26	chr2:191216800-191220400	Enhancers	Brain Angular Gyrus	brain
27	chr2:191216800-191221000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:191216800-191224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:191216800-191224600	Enhancers	HMEC	breast
30	chr2:191217000-191219400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:191217200-191220200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr2:191217200-191220800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr2:191217200-191224200	Weak transcription	HSMM	muscle
34	chr2:191217400-191220800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:191217600-191222800	Enhancers	Fetal Intestine Small	intestine
36	chr2:191217800-191219600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:191217800-191220000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:191217800-191220800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:191217800-191221400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:191217800-191222400	Weak transcription	Fetal Lung	lung
41	chr2:191218000-191219600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:191218000-191220800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:191218000-191220800	Weak transcription	Psoas Muscle	Psoas
44	chr2:191218000-191220800	Weak transcription	Right Atrium	heart
45	chr2:191218000-191220800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:191218000-191220800	Weak transcription	Spleen	Spleen
47	chr2:191218000-191221000	Weak transcription	Thymus	Thymus
48	chr2:191218200-191220200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:191218200-191220800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:191218200-191220800	Weak transcription	Left Ventricle	heart

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